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FZD5 c.647C>A ;(p.P216H)
Variant ID: 2-208632817-G-T
NM_003468.3(
FZD5
):c.647C>A;(p.P216H)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.
Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11
Variant appearance in text: rs35994626
PubMed Link:
36467812
Variant Present in the following documents:
JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page
Variations of Wnt/β-catenin pathway-related genes in susceptibility to knee osteoarthritis: A three-centre case-control study.
Journal Of Cellular And Molecular Medicine
Huang, Yong Y; Jiang, Lifeng L; Yang, Haoyu H; Wu, Lidong L; Xu, Nanwei N; Zhou, Xindie X; Li, Jin J
Publication Date: 2019-12
Variant appearance in text: rs35994626
PubMed Link:
31560818
Variant Present in the following documents:
Main text
JCMM-23-8246.pdf
View BVdb publication page
Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.
Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015
Variant appearance in text: rs35994626
PubMed Link:
26659599
Variant Present in the following documents:
pone.0144692.s002.xlsx, sheet 1
View BVdb publication page